Antoine Civit, Nathalie Ronce, Benjamin Cogné, Thomas Besnard, David Laurenceau, Catherine Hubert, Marie-Pierre Moizard, Paul Gueguen, Annick Toutain, Marie-Laure Vuillaume
{"title":"Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.","authors":"Antoine Civit, Nathalie Ronce, Benjamin Cogné, Thomas Besnard, David Laurenceau, Catherine Hubert, Marie-Pierre Moizard, Paul Gueguen, Annick Toutain, Marie-Laure Vuillaume","doi":"10.1111/cge.14643","DOIUrl":null,"url":null,"abstract":"<p><p>Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively consistent with Snyder-Robinson syndrome. RT-PCR analysis followed by RNA-sequencing demonstrated that this variant, lead to the synthesis of a predominant aberrant transcript with complete intron 6 retention.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/cge.14643","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Identification of the first pathogenic branch point variant in the SMS gene in a large French non-consanguineous family with a phenotype retrospectively consistent with Snyder-Robinson syndrome. RT-PCR analysis followed by RNA-sequencing demonstrated that this variant, lead to the synthesis of a predominant aberrant transcript with complete intron 6 retention.
期刊介绍：
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
